Search Results
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Identifier: NCT00001373 . … Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to be single-gene disorders of …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi Jewish ancestry. There are … such as bone pain, fractures and arthritis. The less common Types 2 and 3 affect the central nervous system and … an important genetic risk factor for developing the more common disorder Parkinson's disease. NHGRI also coordinated a …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common disorders." ECD is caused by the accumulation of … by oncologists, researchers wrote. Until now, the most common treatment for ECD has been interferon , a drug that …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)  … is investigating the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … Center initially in 2008. The UDN was funded by the NIH Common Fund from 2013-2022. … Longstanding medical … diagnosis To advance medical knowledge about rare and common diseases  For information, view our Frequently Asked …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… can use to study how inherited changes in genes lead to common diseases. It will establish a database and a tissue bank that … as planned for GTEx. GTEx is funded through the NIH Common Fund, which supports innovative projects involving …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … Nir Hacohen, Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), … plan to analyze how DNA variants that are associated with common immune diseases cause individuals to differ in their …